Department of Biostatistics, Boston University, 801 Massachusetts Ave, Boston, MA 02118, United States; Department of Biostatistics, University of Michigan, 1415 Washington Heights, Ann Arbor, MI 48103, United States; Department of Computational Medicine and Bioinformatics, University of Michigan, 100 Washtenaw Avenue, Ann Arbor, MI 48109, United States.
Department of Statistics, The Ohio State University, 1958 Neil Avenue, Columbus, OH 43210, United States.
Med Image Anal. 2023 Dec;90:102964. doi: 10.1016/j.media.2023.102964. Epub 2023 Sep 12.
We propose a statistical framework to analyze radiological magnetic resonance imaging (MRI) and genomic data to identify the underlying radiogenomic associations in lower grade gliomas (LGG). We devise a novel imaging phenotype by dividing the tumor region into concentric spherical layers that mimics the tumor evolution process. MRI data within each layer is represented by voxel-intensity-based probability density functions which capture the complete information about tumor heterogeneity. Under a Riemannian-geometric framework these densities are mapped to a vector of principal component scores which act as imaging phenotypes. Subsequently, we build Bayesian variable selection models for each layer with the imaging phenotypes as the response and the genomic markers as predictors. Our novel hierarchical prior formulation incorporates the interior-to-exterior structure of the layers, and the correlation between the genomic markers. We employ a computationally-efficient Expectation-Maximization-based strategy for estimation. Simulation studies demonstrate the superior performance of our approach compared to other approaches. With a focus on the cancer driver genes in LGG, we discuss some biologically relevant findings. Genes implicated with survival and oncogenesis are identified as being associated with the spherical layers, which could potentially serve as early-stage diagnostic markers for disease monitoring, prior to routine invasive approaches. We provide a R package that can be used to deploy our framework to identify radiogenomic associations.
我们提出了一个统计框架,用于分析放射磁共振成像(MRI)和基因组数据,以确定低级别胶质瘤(LGG)中的潜在放射基因组关联。我们通过将肿瘤区域划分为模仿肿瘤进化过程的同心球形层来设计一种新的成像表型。每个层内的 MRI 数据由基于体素强度的概率密度函数表示,该函数捕获了肿瘤异质性的完整信息。在黎曼几何框架下,这些密度被映射到主成分得分向量,作为成像表型。随后,我们为每个层构建贝叶斯变量选择模型,将成像表型作为响应,基因组标记作为预测因子。我们新颖的层次先验公式结合了层的内部到外部结构以及基因组标记之间的相关性。我们采用了一种基于计算效率的期望最大化策略进行估计。模拟研究表明,与其他方法相比,我们的方法具有更好的性能。我们专注于 LGG 中的癌症驱动基因,讨论了一些具有生物学意义的发现。与生存和肿瘤发生相关的基因被确定与球形层有关,这可能成为疾病监测的早期诊断标记物,而无需常规的侵入性方法。我们提供了一个 R 包,可以用于部署我们的框架以识别放射基因组关联。